A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596363



Internal ID16383772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:184846022..184847199hg38UCSC Ensembl
Innerchr4:185767176..185768353hg19UCSC Ensembl
Innerchr4:186004170..186005347hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg381178
hg191178
hg181178
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9421n54
Supporting Variantsnssv1017972, nssv1017971
Samples
Known GenesLOC731424
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596363
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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